Aliases for MBOAT4 Gene

Aliases for MBOAT4 Gene

  • Membrane Bound O-Acyltransferase Domain Containing 4 2 3 5
  • Ghrelin O-Acyltransferase 2 3 4
  • GOAT 2 3 4
  • Membrane-Bound O-Acyltransferase Domain-Containing Protein 4 3 4
  • O-Acyltransferase (Membrane Bound) Domain Containing 4 2 3
  • O-Acyltransferase Domain-Containing Protein 4 3 4
  • FKSG89 2 3
  • OACT4 3 4
  • EC 2.3.1.- 4
  • MBOAT4 5

External Ids for MBOAT4 Gene

Previous HGNC Symbols for MBOAT4 Gene

  • OACT4

Previous GeneCards Identifiers for MBOAT4 Gene

  • GC08M030108
  • GC08M029989
  • GC08M028533

Summaries for MBOAT4 Gene

GeneCards Summary for MBOAT4 Gene

MBOAT4 (Membrane Bound O-Acyltransferase Domain Containing 4) is a Protein Coding gene. Diseases associated with MBOAT4 include Leptin Deficiency Or Dysfunction. Among its related pathways are Metabolism of proteins and Peptide hormone metabolism. Gene Ontology (GO) annotations related to this gene include serine O-acyltransferase activity. An important paralog of this gene is MBOAT1.

UniProtKB/Swiss-Prot Summary for MBOAT4 Gene

  • Mediates the octanoylation of ghrelin at 'Ser-3'. Can use a variety of fatty acids as substrates including octanoic acid, decanoic acid and tetradecanoic acid.

Additional gene information for MBOAT4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MBOAT4 Gene

Genomics for MBOAT4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MBOAT4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MBOAT4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MBOAT4

Top Transcription factor binding sites by QIAGEN in the MBOAT4 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • FosB
  • FOXC1
  • Fra-1
  • GATA-6
  • JunB
  • JunD
  • Lmo2

Genomic Locations for MBOAT4 Gene

Genomic Locations for MBOAT4 Gene
chr8:30,131,454-30,148,768
(GRCh38/hg38)
Size:
17,315 bases
Orientation:
Minus strand
chr8:29,989,187-30,002,202
(GRCh37/hg19)
Size:
13,016 bases
Orientation:
Minus strand

Genomic View for MBOAT4 Gene

Genes around MBOAT4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MBOAT4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MBOAT4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MBOAT4 Gene

Proteins for MBOAT4 Gene

  • Protein details for MBOAT4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96T53-MBOA4_HUMAN
    Recommended name:
    Ghrelin O-acyltransferase
    Protein Accession:
    Q96T53
    Secondary Accessions:
    • B1Q003

    Protein attributes for MBOAT4 Gene

    Size:
    435 amino acids
    Molecular mass:
    49716 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MBOAT4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MBOAT4 Gene

Post-translational modifications for MBOAT4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MBOAT4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MBOAT4 Gene

Domains & Families for MBOAT4 Gene

Gene Families for MBOAT4 Gene

Protein Domains for MBOAT4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MBOAT4 Gene

GenScript: Design optimal peptide antigens:
  • Membrane bound O-acyltransferase domain containing 4 (E7DVW7_HUMAN)
  • Membrane-bound O-acyltransferase domain-containing protein 4 (MBOA4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96T53

UniProtKB/Swiss-Prot:

MBOA4_HUMAN :
  • Belongs to the membrane-bound acyltransferase family.
Family:
  • Belongs to the membrane-bound acyltransferase family.
genes like me logo Genes that share domains with MBOAT4: view

Function for MBOAT4 Gene

Molecular function for MBOAT4 Gene

UniProtKB/Swiss-Prot Function:
Mediates the octanoylation of ghrelin at 'Ser-3'. Can use a variety of fatty acids as substrates including octanoic acid, decanoic acid and tetradecanoic acid.

Enzyme Numbers (IUBMB) for MBOAT4 Gene

Phenotypes From GWAS Catalog for MBOAT4 Gene

Gene Ontology (GO) - Molecular Function for MBOAT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008374 O-acyltransferase activity TAS --
GO:0016412 serine O-acyltransferase activity IDA 18443287
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA,IBA 21873635
genes like me logo Genes that share ontologies with MBOAT4: view
genes like me logo Genes that share phenotypes with MBOAT4: view

Animal Models for MBOAT4 Gene

MGI Knock Outs for MBOAT4:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MBOAT4

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for MBOAT4 Gene

Localization for MBOAT4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MBOAT4 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MBOAT4 gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MBOAT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA,IBA 21873635
GO:0016021 integral component of membrane IEA --
GO:0030176 integral component of endoplasmic reticulum membrane IEA,ISS --
genes like me logo Genes that share ontologies with MBOAT4: view

Pathways & Interactions for MBOAT4 Gene

genes like me logo Genes that share pathways with MBOAT4: view

Pathways by source for MBOAT4 Gene

Interacting Proteins for MBOAT4 Gene

Gene Ontology (GO) - Biological Process for MBOAT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0018191 peptidyl-serine octanoylation IDA 18443287
GO:0030258 lipid modification IBA 21873635
genes like me logo Genes that share ontologies with MBOAT4: view

No data available for SIGNOR curated interactions for MBOAT4 Gene

Drugs & Compounds for MBOAT4 Gene

No Compound Related Data Available

Transcripts for MBOAT4 Gene

mRNA/cDNA for MBOAT4 Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MBOAT4

Alternative Splicing Database (ASD) splice patterns (SP) for MBOAT4 Gene

No ASD Table

Relevant External Links for MBOAT4 Gene

GeneLoc Exon Structure for
MBOAT4

Expression for MBOAT4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MBOAT4 Gene

mRNA differential expression in normal tissues according to GTEx for MBOAT4 Gene

This gene is overexpressed in Pancreas (x8.3) and Testis (x6.3).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MBOAT4

SOURCE GeneReport for Unigene cluster for MBOAT4 Gene:

Hs.627194

mRNA Expression by UniProt/SwissProt for MBOAT4 Gene:

Q96T53-MBOA4_HUMAN
Tissue specificity: Expressed predominantly in stomach with moderate levels in pancreas and relatively low levels in most other tissues.

Evidence on tissue expression from TISSUES for MBOAT4 Gene

  • Stomach(3)
  • Pancreas(2.1)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with MBOAT4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MBOAT4 Gene

Orthologs for MBOAT4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MBOAT4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MBOAT4 30 31
  • 99.08 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MBOAT4 30 31
  • 83.75 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mboat4 30
  • 81.23 (n)
Mouse
(Mus musculus)
Mammalia Mboat4 30 17 31
  • 80.84 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MBOAT4 30 31
  • 80.61 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MBOAT4 31
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MBOAT4 30 31
  • 59.9 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MBOAT4 31
  • 55 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100487840 30
  • 56.34 (n)
Zebrafish
(Danio rerio)
Actinopterygii mboat4 30 31
  • 50.42 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta oys 31
  • 13 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea mboa-5 31
  • 17 (a)
ManyToMany
mboa-4 31
  • 15 (a)
ManyToMany
mboa-3 31
  • 15 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALE1 31
  • 12 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10638 31
  • 19 (a)
OneToMany
Species where no ortholog for MBOAT4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MBOAT4 Gene

ENSEMBL:
Gene Tree for MBOAT4 (if available)
TreeFam:
Gene Tree for MBOAT4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MBOAT4: view image

Paralogs for MBOAT4 Gene

Paralogs for MBOAT4 Gene

genes like me logo Genes that share paralogs with MBOAT4: view

Variants for MBOAT4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MBOAT4 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
709877 Benign: not provided 30,131,945(-) A/G STOP_LOST,INTRON_VARIANT
734148 Benign: not provided 30,132,685(-) C/T MISSENSE_VARIANT,INTRON_VARIANT
742348 Likely Benign: not provided 30,132,423(-) A/T SYNONYMOUS_VARIANT,INTRON_VARIANT
784126 Benign: not provided 30,132,393(-) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
rs16876563 - p.Gly231Glu

Additional dbSNP identifiers (rs#s) for MBOAT4 Gene

Structural Variations from Database of Genomic Variants (DGV) for MBOAT4 Gene

Variant ID Type Subtype PubMed ID
esv2736827 CNV deletion 23290073
esv3616784 CNV loss 21293372
nsv1124332 CNV deletion 24896259
nsv831277 CNV gain 17160897

Variation tolerance for MBOAT4 Gene

Gene Damage Index Score: 3.17; 51.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MBOAT4 Gene

Human Gene Mutation Database (HGMD)
MBOAT4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MBOAT4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MBOAT4 Gene

Disorders for MBOAT4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MBOAT4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
leptin deficiency or dysfunction
  • lepd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MBOAT4

genes like me logo Genes that share disorders with MBOAT4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MBOAT4 Gene

Publications for MBOAT4 Gene

  1. Ghrelin octanoylation mediated by an orphan lipid transferase. (PMID: 18443287) Gutierrez JA … Hale JE (Proceedings of the National Academy of Sciences of the United States of America 2008) 2 3 4
  2. Differential expression of the ghrelin-related mRNAs GHS-R1a, GHS-R1b, and MBOAT4 in Japanese patients with schizophrenia. (PMID: 30597386) Nakata S … Ueno SI (Psychiatry research 2019) 3
  3. Identification and Characterization of a New Series of Ghrelin O-Acyl Transferase Inhibitors. (PMID: 28846466) Yoneyama-Hirozane M … Sakamoto J (SLAS discovery : advancing life sciences R & D 2018) 3
  4. Ghrelin-O-Acyltransferase (GOAT) Enzyme as a Novel Potential Biomarker in Gastroenteropancreatic Neuroendocrine Tumors. (PMID: 30297816) Herrera-Martínez AD … Luque RM (Clinical and translational gastroenterology 2018) 3
  5. Plasma ghrelin O-acyltransferase (GOAT) enzyme levels: A novel non-invasive diagnosis tool for patients with significant prostate cancer. (PMID: 30256519) Gómez-Gómez E … Luque RM (Journal of cellular and molecular medicine 2018) 3

Products for MBOAT4 Gene

Sources for MBOAT4 Gene